메뉴 건너뛰기




Volumn 29, Issue 3, 2010, Pages 191-207

Genetics and molecular pathology of Stargardt-like macular degeneration

Author keywords

Animal models; Dominant negative effect; ELOVL4; Fatty acids; Protein accumulation; STGD3

Indexed keywords

ELONGATION OF VERY LONG CHAIN FATTY ACID 4; LIPOFUSCIN; UNCLASSIFIED DRUG; VERY LONG CHAIN FATTY ACID;

EID: 77951204243     PISSN: 13509462     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.preteyeres.2010.01.001     Document Type: Review
Times cited : (56)

References (119)
  • 1
    • 0022924342 scopus 로고
    • Stargardt's disease and fundus flavimaculatus: evaluation of morphologic progression and intrafamilial co-existence
    • Aaberg T.M. Stargardt's disease and fundus flavimaculatus: evaluation of morphologic progression and intrafamilial co-existence. Trans. Am. Ophthalmol. Soc. 1986, 84:453-487.
    • (1986) Trans. Am. Ophthalmol. Soc. , vol.84 , pp. 453-487
    • Aaberg, T.M.1
  • 8
    • 0023857738 scopus 로고
    • Phospholipid species containing long and very long polyenoic fatty acids remain with rhodopsin after hexane extraction of photoreceptor membranes
    • Aveldano M.I. Phospholipid species containing long and very long polyenoic fatty acids remain with rhodopsin after hexane extraction of photoreceptor membranes. Biochemistry 1988, 27:1229-1239.
    • (1988) Biochemistry , vol.27 , pp. 1229-1239
    • Aveldano, M.I.1
  • 9
    • 0016311268 scopus 로고
    • Free fatty acids, diacyl- and triacylglycerols and total phospholipids in vertebrate retina: comparison with brain, choroid and plasma
    • Aveldano M.I., Bazan N.G. Free fatty acids, diacyl- and triacylglycerols and total phospholipids in vertebrate retina: comparison with brain, choroid and plasma. J. Neurochem. 1974, 23:1127-1135.
    • (1974) J. Neurochem. , vol.23 , pp. 1127-1135
    • Aveldano, M.I.1    Bazan, N.G.2
  • 10
    • 0023165036 scopus 로고
    • Very long chain (C24 to C36) polyenoic fatty acids of the n-3 and n-6 series in dipolyunsaturated phosphatidylcholines from bovine retina
    • Aveldano M.I., Sprecher H. Very long chain (C24 to C36) polyenoic fatty acids of the n-3 and n-6 series in dipolyunsaturated phosphatidylcholines from bovine retina. J. Biol. Chem. 1987, 262:1180-1186.
    • (1987) J. Biol. Chem. , vol.262 , pp. 1180-1186
    • Aveldano, M.I.1    Sprecher, H.2
  • 11
    • 16444378613 scopus 로고    scopus 로고
    • Quantitative and spatial analysis in image processing: study of drusen distribution from the foveal center in age-related macular degeneration
    • Barthes A., Conrath J., Ridings B. J. Fr. Ophtalmol. 2005, 28:298-302.
    • (2005) J. Fr. Ophtalmol. , vol.28 , pp. 298-302
    • Barthes, A.1    Conrath, J.2    Ridings, B.3
  • 17
    • 24044499649 scopus 로고    scopus 로고
    • Clinicopathologic correlation of drusen and retinal pigment epithelial abnormalities in age-related macular degeneration. 1994
    • Bressler N.M., Silva J.C., Bressler S.B., Fine S.L., Green W.R. Clinicopathologic correlation of drusen and retinal pigment epithelial abnormalities in age-related macular degeneration. 1994. Retina 2005, 25:130-142.
    • (2005) Retina , vol.25 , pp. 130-142
    • Bressler, N.M.1    Silva, J.C.2    Bressler, S.B.3    Fine, S.L.4    Green, W.R.5
  • 18
    • 33751099034 scopus 로고    scopus 로고
    • RNAi therapeutics: a potential new class of pharmaceutical drugs
    • Bumcrot D., Manoharan M., Koteliansky V., Sah D.W. RNAi therapeutics: a potential new class of pharmaceutical drugs. Nat. Chem. Biol. 2006, 2:711-719.
    • (2006) Nat. Chem. Biol. , vol.2 , pp. 711-719
    • Bumcrot, D.1    Manoharan, M.2    Koteliansky, V.3    Sah, D.W.4
  • 19
  • 24
    • 0018951516 scopus 로고
    • Dominantly inherited macular dystrophy with flecks (Stargardt)
    • Cibis G.W., Morey M., Harris D.J. Dominantly inherited macular dystrophy with flecks (Stargardt). Arch. Ophthalmol. 1980, 98:1785-1789.
    • (1980) Arch. Ophthalmol. , vol.98 , pp. 1785-1789
    • Cibis, G.W.1    Morey, M.2    Harris, D.J.3
  • 25
    • 0026544667 scopus 로고
    • The fatty acid chain elongation system of mammalian endoplasmic reticulum
    • Cinti D.L., Cook L., Nagi M.N., Suneja S.K. The fatty acid chain elongation system of mammalian endoplasmic reticulum. Prog. Lipid Res. 1992, 31:1-51.
    • (1992) Prog. Lipid Res. , vol.31 , pp. 1-51
    • Cinti, D.L.1    Cook, L.2    Nagi, M.N.3    Suneja, S.K.4
  • 26
    • 16244368037 scopus 로고    scopus 로고
    • Risk factors for the incidence of advanced age-related macular degeneration in the Age-Related Eye Disease Study (AREDS) AREDS report no. 19
    • Clemons T.E., Milton R.C., Klein R., Seddon J.M., Ferris F.L. Risk factors for the incidence of advanced age-related macular degeneration in the Age-Related Eye Disease Study (AREDS) AREDS report no. 19. Ophthalmology 2005, 112:533-539.
    • (2005) Ophthalmology , vol.112 , pp. 533-539
    • Clemons, T.E.1    Milton, R.C.2    Klein, R.3    Seddon, J.M.4    Ferris, F.L.5
  • 28
    • 23944475451 scopus 로고    scopus 로고
    • Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in the etiology of age-related maculopathy
    • Conley Y.P., Thalamuthu A., Jakobsdottir J., Weeks D.E., Mah T., Ferrell R.E., Gorin M.B. Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in the etiology of age-related maculopathy. Hum. Mol. Genet. 2005, 14:1991-2002.
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 1991-2002
    • Conley, Y.P.1    Thalamuthu, A.2    Jakobsdottir, J.3    Weeks, D.E.4    Mah, T.5    Ferrell, R.E.6    Gorin, M.B.7
  • 33
    • 39249084045 scopus 로고    scopus 로고
    • Quantum tunneling using entangled classical trajectories
    • Donoso A., Martens C.C. Quantum tunneling using entangled classical trajectories. Phys. Rev. Lett. 2001, 87:223202.
    • (2001) Phys. Rev. Lett. , vol.87 , pp. 223202
    • Donoso, A.1    Martens, C.C.2
  • 34
    • 0019289924 scopus 로고
    • Retinal pigment epithelial abnormalities in fundus flavimaculatus: a light and electron microscopic study
    • Eagle R.C., Lucier A.C., Bernardino V.B., Yanoff M. Retinal pigment epithelial abnormalities in fundus flavimaculatus: a light and electron microscopic study. Ophthalmology 1980, 87:1189-1200.
    • (1980) Ophthalmology , vol.87 , pp. 1189-1200
    • Eagle, R.C.1    Lucier, A.C.2    Bernardino, V.B.3    Yanoff, M.4
  • 35
    • 0034793483 scopus 로고    scopus 로고
    • A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family
    • Edwards A.O., Donoso L.A., Ritter R. A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family. Invest. Ophthalmol. Vis. Sci. 2001, 42:2652-2663.
    • (2001) Invest. Ophthalmol. Vis. Sci. , vol.42 , pp. 2652-2663
    • Edwards, A.O.1    Donoso, L.A.2    Ritter, R.3
  • 36
    • 0033119609 scopus 로고    scopus 로고
    • Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14
    • Edwards A.O., Miedziak A., Vrabec T., Verhoeven J., Acott T.S., Weleber R.G., Donoso L.A. Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14. Am. J. Ophthalmol. 1999, 127:426-435.
    • (1999) Am. J. Ophthalmol. , vol.127 , pp. 426-435
    • Edwards, A.O.1    Miedziak, A.2    Vrabec, T.3    Verhoeven, J.4    Acott, T.S.5    Weleber, R.G.6    Donoso, L.A.7
  • 38
    • 0035128064 scopus 로고    scopus 로고
    • Risk factors for age-related macular degeneration
    • Evans J.R. Risk factors for age-related macular degeneration. Prog. Retin. Eye Res. 2001, 20:227-253.
    • (2001) Prog. Retin. Eye Res. , vol.20 , pp. 227-253
    • Evans, J.R.1
  • 39
    • 34250864984 scopus 로고    scopus 로고
    • Changes in lipids containing long- and very long-chain polyunsaturated fatty acids in cryptorchid rat testes
    • Furland N.E., Maldonado E.N., Aresti P.A., Aveldano M.I. Changes in lipids containing long- and very long-chain polyunsaturated fatty acids in cryptorchid rat testes. Biol. Reprod. 2007, 77:181-188.
    • (2007) Biol. Reprod. , vol.77 , pp. 181-188
    • Furland, N.E.1    Maldonado, E.N.2    Aresti, P.A.3    Aveldano, M.I.4
  • 40
    • 34547125599 scopus 로고    scopus 로고
    • Very long-chain polyunsaturated fatty acids are the major acyl groups of sphingomyelins and ceramides in the head of mammalian spermatozoa
    • Furland N.E., Oresti G.M., Antollini S.S., Venturino A., Maldonado E.N., Aveldano M.I. Very long-chain polyunsaturated fatty acids are the major acyl groups of sphingomyelins and ceramides in the head of mammalian spermatozoa. J. Biol. Chem. 2007, 282:18151-18161.
    • (2007) J. Biol. Chem. , vol.282 , pp. 18151-18161
    • Furland, N.E.1    Oresti, G.M.2    Antollini, S.S.3    Venturino, A.4    Maldonado, E.N.5    Aveldano, M.I.6
  • 41
    • 34547132811 scopus 로고    scopus 로고
    • Ceramides and sphingomyelins with high proportions of very long-chain polyunsaturated fatty acids in mammalian germ cells
    • Furland N.E., Zanetti S.R., Oresti G.M., Maldonado E.N., Aveldano M.I. Ceramides and sphingomyelins with high proportions of very long-chain polyunsaturated fatty acids in mammalian germ cells. J. Biol. Chem. 2007, 282:18141-18150.
    • (2007) J. Biol. Chem. , vol.282 , pp. 18141-18150
    • Furland, N.E.1    Zanetti, S.R.2    Oresti, G.M.3    Maldonado, E.N.4    Aveldano, M.I.5
  • 43
    • 25444483848 scopus 로고    scopus 로고
    • Dominant negative mechanism underlies autosomal dominant Stargardt-like macular dystrophy linked to mutations in ELOVL4
    • Grayson C., Molday R.S. Dominant negative mechanism underlies autosomal dominant Stargardt-like macular dystrophy linked to mutations in ELOVL4. J. Biol. Chem. 2005, 280:32521-32530.
    • (2005) J. Biol. Chem. , vol.280 , pp. 32521-32530
    • Grayson, C.1    Molday, R.S.2
  • 44
    • 0033987580 scopus 로고    scopus 로고
    • Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci
    • Griesinger I.B., Sieving P.A., Ayyagari R. Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci. Invest. Ophthalmol. Vis. Sci. 2000, 41:248-255.
    • (2000) Invest. Ophthalmol. Vis. Sci. , vol.41 , pp. 248-255
    • Griesinger, I.B.1    Sieving, P.A.2    Ayyagari, R.3
  • 45
    • 33745670172 scopus 로고    scopus 로고
    • The genetics of age-related macular degeneration: a review of progress to date
    • Haddad S., Chen C.A., Santangelo S.L., Seddon J.M. The genetics of age-related macular degeneration: a review of progress to date. Surv. Ophthalmol. 2006, 51:316-363.
    • (2006) Surv. Ophthalmol. , vol.51 , pp. 316-363
    • Haddad, S.1    Chen, C.A.2    Santangelo, S.L.3    Seddon, J.M.4
  • 46
    • 0017191706 scopus 로고
    • Fundus flavimaculatus and Stargardt's disease
    • Hadden O.B., Gass J.D. Fundus flavimaculatus and Stargardt's disease. Am. J. Ophthalmol. 1976, 82:527-539.
    • (1976) Am. J. Ophthalmol. , vol.82 , pp. 527-539
    • Hadden, O.B.1    Gass, J.D.2
  • 48
    • 0036437307 scopus 로고    scopus 로고
    • Transcriptional and translational control in the mammalian unfolded protein response
    • Harding H.P., Calfon M., Urano F., Novoa I., Ron D. Transcriptional and translational control in the mammalian unfolded protein response. Annu. Rev. Cell Dev. Biol. 2002, 18:575-599.
    • (2002) Annu. Rev. Cell Dev. Biol. , vol.18 , pp. 575-599
    • Harding, H.P.1    Calfon, M.2    Urano, F.3    Novoa, I.4    Ron, D.5
  • 50
    • 53049087610 scopus 로고    scopus 로고
    • Metabolic engineering of omega3-very long chain polyunsaturated fatty acid production by an exclusively acyl-CoA-dependent pathway
    • Hoffmann M., Wagner M., Abbadi A., Fulda M., Feussner I. Metabolic engineering of omega3-very long chain polyunsaturated fatty acid production by an exclusively acyl-CoA-dependent pathway. J. Biol. Chem. 2008, 283:22352-22362.
    • (2008) J. Biol. Chem. , vol.283 , pp. 22352-22362
    • Hoffmann, M.1    Wagner, M.2    Abbadi, A.3    Fulda, M.4    Feussner, I.5
  • 51
    • 32644455286 scopus 로고    scopus 로고
    • Association of adipose and red blood cell lipids with severity of dominant Stargardt macular dystrophy (STGD3) secondary to an ELOVL4 mutation
    • Hubbard A.F., Askew E.W., Singh N., Leppert M., Bernstein P.S. Association of adipose and red blood cell lipids with severity of dominant Stargardt macular dystrophy (STGD3) secondary to an ELOVL4 mutation. Arch. Ophthalmol. 2006, 124:257-263.
    • (2006) Arch. Ophthalmol. , vol.124 , pp. 257-263
    • Hubbard, A.F.1    Askew, E.W.2    Singh, N.3    Leppert, M.4    Bernstein, P.S.5
  • 52
    • 0036097438 scopus 로고    scopus 로고
    • Risk factors for age-related macular degeneration: an update
    • Hyman L., Neborsky R. Risk factors for age-related macular degeneration: an update. Curr. Opin. Ophthalmol. 2002, 13:171-175.
    • (2002) Curr. Opin. Ophthalmol. , vol.13 , pp. 171-175
    • Hyman, L.1    Neborsky, R.2
  • 54
    • 0035699547 scopus 로고    scopus 로고
    • Complement activation and inflammatory processes in drusen formation and age related macular degeneration
    • Johnson L.V., Leitner W.P., Staples M.K., Anderson D.H. Complement activation and inflammatory processes in drusen formation and age related macular degeneration. Exp. Eye Res. 2001, 73:887-896.
    • (2001) Exp. Eye Res. , vol.73 , pp. 887-896
    • Johnson, L.V.1    Leitner, W.P.2    Staples, M.K.3    Anderson, D.H.4
  • 55
    • 0032576605 scopus 로고    scopus 로고
    • Aggresomes: a cellular response to misfolded proteins
    • Johnston J.A., Ward C.L., Kopito R.R. Aggresomes: a cellular response to misfolded proteins. J. Cell Biol. 1998, 143:1883-1898.
    • (1998) J. Cell Biol. , vol.143 , pp. 1883-1898
    • Johnston, J.A.1    Ward, C.L.2    Kopito, R.R.3
  • 57
    • 2342532489 scopus 로고    scopus 로고
    • Expression of wild type and mutant ELOVL4 in cell culture: subcellular localization and cell viability
    • Karan G., Yang Z., Zhang K. Expression of wild type and mutant ELOVL4 in cell culture: subcellular localization and cell viability. Mol. Vis. 2004, 10:248-253.
    • (2004) Mol. Vis. , vol.10 , pp. 248-253
    • Karan, G.1    Yang, Z.2    Zhang, K.3
  • 58
    • 77951207423 scopus 로고    scopus 로고
    • Expression of wild type and mutant ELOVL4 in cell culture: subcellular localization and cell viability
    • Annual Meeting of American Society of Human Genetics Abstract 1766/B577
    • Karan, G., Yang, Z., Zhang, K., 2004b. Expression of wild type and mutant ELOVL4 in cell culture: subcellular localization and cell viability. In: Annual Meeting of American Society of Human Genetics Abstract 1766/B577.
    • (2004)
    • Karan, G.1    Yang, Z.2    Zhang, K.3
  • 60
    • 26244455954 scopus 로고    scopus 로고
    • Loss of ER retention and sequestration of the wild-type ELOVL4 by Stargardt disease dominant negative mutants
    • Karan G., Yang Z., Howes K., Zhao Y., Chen Y., Cameron D.J., Lin Y., Pearson E., Zhang K. Loss of ER retention and sequestration of the wild-type ELOVL4 by Stargardt disease dominant negative mutants. Mol. Vis. 2005, 11:657-664.
    • (2005) Mol. Vis. , vol.11 , pp. 657-664
    • Karan, G.1    Yang, Z.2    Howes, K.3    Zhao, Y.4    Chen, Y.5    Cameron, D.J.6    Lin, Y.7    Pearson, E.8    Zhang, K.9
  • 61
    • 84890873409 scopus 로고    scopus 로고
    • Drosophila photoreceptors and signaling mechanisms
    • Katz B., Minke B. Drosophila photoreceptors and signaling mechanisms. Front. Cell. Neurosci. 2009, 3:2.
    • (2009) Front. Cell. Neurosci. , vol.3 , pp. 2
    • Katz, B.1    Minke, B.2
  • 64
    • 0014108191 scopus 로고
    • Fundus flavimaculatus. Clinical, functional and histopathologic observations
    • Klien B.A., Krill A.E. Fundus flavimaculatus. Clinical, functional and histopathologic observations. Am. J. Ophthalmol. 1967, 64:3-23.
    • (1967) Am. J. Ophthalmol. , vol.64 , pp. 3-23
    • Klien, B.A.1    Krill, A.E.2
  • 69
    • 0019020390 scopus 로고
    • The Framingham Eye Study monograph: an ophthalmological and epidemiological study of cataract, glaucoma, diabetic retinopathy, macular degeneration, and visual acuity in a general population of 2631 adults, 1973-1975
    • Leibowitz H.M., Krueger D.E., Maunder L.R., Milton R.C., Kini M.M., Kahn H.A., Nickerson R.J., Pool J., Colton T.L., Ganley J.P., Loewenstein J.I., Dawber T.R. The Framingham Eye Study monograph: an ophthalmological and epidemiological study of cataract, glaucoma, diabetic retinopathy, macular degeneration, and visual acuity in a general population of 2631 adults, 1973-1975. Surv. Ophthalmol. 1980, 24:335-610.
    • (1980) Surv. Ophthalmol. , vol.24 , pp. 335-610
    • Leibowitz, H.M.1    Krueger, D.E.2    Maunder, L.R.3    Milton, R.C.4    Kini, M.M.5    Kahn, H.A.6    Nickerson, R.J.7    Pool, J.8    Colton, T.L.9    Ganley, J.P.10    Loewenstein, J.I.11    Dawber, T.R.12
  • 71
    • 33846903325 scopus 로고    scopus 로고
    • Depletion of ceramides with very long chain fatty acids causes defective skin permeability barrier function, and neonatal lethality in ELOVL4 deficient mice
    • Li W., Sandhoff R., Kono M., Zerfas P., Hoffmann V., Ding B.C., Proia R.L., Deng C.X. Depletion of ceramides with very long chain fatty acids causes defective skin permeability barrier function, and neonatal lethality in ELOVL4 deficient mice. Int. J. Biol. Sci. 2007, 3:120-128.
    • (2007) Int. J. Biol. Sci. , vol.3 , pp. 120-128
    • Li, W.1    Sandhoff, R.2    Kono, M.3    Zerfas, P.4    Hoffmann, V.5    Ding, B.C.6    Proia, R.L.7    Deng, C.X.8
  • 72
    • 0025363287 scopus 로고
    • Autosomal-dominant fundus flavimaculatus. Clinicopathologic correlation
    • Lopez P.F., Maumenee I.H., de la Cruz Z., Green W.R. Autosomal-dominant fundus flavimaculatus. Clinicopathologic correlation. Ophthalmology 1990, 97:798-809.
    • (1990) Ophthalmology , vol.97 , pp. 798-809
    • Lopez, P.F.1    Maumenee, I.H.2    de la Cruz, Z.3    Green, W.R.4
  • 73
    • 0942301207 scopus 로고    scopus 로고
    • Effect of docosahexaenoic acid supplementation on retinal function in a patient with autosomal dominant Stargardt-like retinal dystrophy
    • MacDonald I.M., Hebert M., Yau R.J., Flynn S., Jumpsen J., Suh M., Clandinin M.T. Effect of docosahexaenoic acid supplementation on retinal function in a patient with autosomal dominant Stargardt-like retinal dystrophy. Br. J. Ophthalmol. 2004, 88:305-306.
    • (2004) Br. J. Ophthalmol. , vol.88 , pp. 305-306
    • MacDonald, I.M.1    Hebert, M.2    Yau, R.J.3    Flynn, S.4    Jumpsen, J.5    Suh, M.6    Clandinin, M.T.7
  • 74
    • 1542509344 scopus 로고    scopus 로고
    • Characterization of mouse orthologue of ELOVL4: genomic organization and spatial and temporal expression
    • Mandal M.N., Ambasudhan R., Wong P.W., Gage P.J., Sieving P.A., Ayyagari R. Characterization of mouse orthologue of ELOVL4: genomic organization and spatial and temporal expression. Genomics 2004, 83:626-635.
    • (2004) Genomics , vol.83 , pp. 626-635
    • Mandal, M.N.1    Ambasudhan, R.2    Wong, P.W.3    Gage, P.J.4    Sieving, P.A.5    Ayyagari, R.6
  • 75
    • 0026619003 scopus 로고
    • Long-term follow-up of dominant macular dystrophy with flecks (Stargardt)
    • Mansour A.M. Long-term follow-up of dominant macular dystrophy with flecks (Stargardt). Ophthalmologica 1992, 205:138-143.
    • (1992) Ophthalmologica , vol.205 , pp. 138-143
    • Mansour, A.M.1
  • 76
    • 34247257159 scopus 로고    scopus 로고
    • The challenge of modeling macular degeneration in mice
    • Marmorstein A.D., Marmorstein L.Y. The challenge of modeling macular degeneration in mice. Trends Genet. 2007, 23:225-231.
    • (2007) Trends Genet. , vol.23 , pp. 225-231
    • Marmorstein, A.D.1    Marmorstein, L.Y.2
  • 78
    • 77949774142 scopus 로고    scopus 로고
    • Polyunsaturated extremely long chain C28-C36 fatty acids and retinal physiology
    • [Epub ahead of print]
    • McMahon A., Kedzierski W. Polyunsaturated extremely long chain C28-C36 fatty acids and retinal physiology. Br. J. Ophthalmol. Aug 9, 2009, [Epub ahead of print].
    • (2009) Br. J. Ophthalmol.
    • McMahon, A.1    Kedzierski, W.2
  • 79
    • 33847334356 scopus 로고    scopus 로고
    • Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4
    • McMahon A., Butovich I.A., Mata N.L., Klein M., Ritter R., Richardson J., Birch D.G., Edwards A.O., Kedzierski W. Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4. Mol. Vis. 2007, 13:258-272.
    • (2007) Mol. Vis. , vol.13 , pp. 258-272
    • McMahon, A.1    Butovich, I.A.2    Mata, N.L.3    Klein, M.4    Ritter, R.5    Richardson, J.6    Birch, D.G.7    Edwards, A.O.8    Kedzierski, W.9
  • 80
    • 36049004344 scopus 로고    scopus 로고
    • A Stargardt disease-3 mutation in the mouse Elovl4 gene causes retinal deficiency of C32-C36 acyl phosphatidylcholines
    • McMahon A., Jackson S.N., Woods A.S., Kedzierski W. A Stargardt disease-3 mutation in the mouse Elovl4 gene causes retinal deficiency of C32-C36 acyl phosphatidylcholines. FEBS Lett. 2007, 581:5459-5463.
    • (2007) FEBS Lett. , vol.581 , pp. 5459-5463
    • McMahon, A.1    Jackson, S.N.2    Woods, A.S.3    Kedzierski, W.4
  • 82
    • 0028610188 scopus 로고
    • A twin study on age-related macular degeneration
    • Meyers S.M. A twin study on age-related macular degeneration. Trans. Am. Ophthalmol. Soc. 1994, 92:775-843.
    • (1994) Trans. Am. Ophthalmol. Soc. , vol.92 , pp. 775-843
    • Meyers, S.M.1
  • 83
    • 0028344186 scopus 로고
    • Abnormality of water barrier function in psoriasis. Role of ceramide fractions
    • Motta S., Monti M., Sesana S., Mellesi L., Ghidoni R., Caputo R. Abnormality of water barrier function in psoriasis. Role of ceramide fractions. Arch. Dermatol. 1994, 130:452-456.
    • (1994) Arch. Dermatol. , vol.130 , pp. 452-456
    • Motta, S.1    Monti, M.2    Sesana, S.3    Mellesi, L.4    Ghidoni, R.5    Caputo, R.6
  • 84
    • 0018308824 scopus 로고
    • Stargardt's disease and fundus flavimaculatus
    • Noble K.G., Carr R.E. Stargardt's disease and fundus flavimaculatus. Arch. Ophthalmol. 1979, 97:1281-1285.
    • (1979) Arch. Ophthalmol. , vol.97 , pp. 1281-1285
    • Noble, K.G.1    Carr, R.E.2
  • 85
    • 67349174964 scopus 로고    scopus 로고
    • Vitamin D receptor and coactivators SRC2 and 3 regulate epidermis-specific sphingolipid production and permeability barrier formation
    • Oda Y., Uchida Y., Moradian S., Crumrine D., Elias P.M., Bikle D.D. Vitamin D receptor and coactivators SRC2 and 3 regulate epidermis-specific sphingolipid production and permeability barrier formation. J. Invest. Dermatol. 2009, 129:1367-1378.
    • (2009) J. Invest. Dermatol. , vol.129 , pp. 1367-1378
    • Oda, Y.1    Uchida, Y.2    Moradian, S.3    Crumrine, D.4    Elias, P.M.5    Bikle, D.D.6
  • 86
    • 0030878240 scopus 로고    scopus 로고
    • ELO2 and ELO3, homologues of the Saccharomyces cerevisiae ELO1 gene, function in fatty acid elongation and are required for sphingolipid formation
    • Oh C.S., Toke D.A., Mandala S., Martin C.E. ELO2 and ELO3, homologues of the Saccharomyces cerevisiae ELO1 gene, function in fatty acid elongation and are required for sphingolipid formation. J. Biol. Chem. 1997, 272:17376-17384.
    • (1997) J. Biol. Chem. , vol.272 , pp. 17376-17384
    • Oh, C.S.1    Toke, D.A.2    Mandala, S.3    Martin, C.E.4
  • 88
    • 0029902372 scopus 로고    scopus 로고
    • Age-related macular degeneration: a leading cause of blindness
    • O'Shea J.G. Age-related macular degeneration: a leading cause of blindness. Med. J. Aust. 1996, 165:561-564.
    • (1996) Med. J. Aust. , vol.165 , pp. 561-564
    • O'Shea, J.G.1
  • 89
    • 0032779694 scopus 로고    scopus 로고
    • Signal transduction from the endoplasmic reticulum to the cell nucleus
    • Pahl H.L. Signal transduction from the endoplasmic reticulum to the cell nucleus. Physiol. Rev. 1999, 79:683-701.
    • (1999) Physiol. Rev. , vol.79 , pp. 683-701
    • Pahl, H.L.1
  • 94
    • 3142514201 scopus 로고    scopus 로고
    • Protein aggregation and neurodegenerative disease
    • Ross C.A., Poirier M.A. Protein aggregation and neurodegenerative disease. Nat. Med. 2004, 10(Suppl.):S10-S17.
    • (2004) Nat. Med. , vol.10 , Issue.SUPPL.
    • Ross, C.A.1    Poirier, M.A.2
  • 96
    • 0037099080 scopus 로고    scopus 로고
    • The cellular fate of mutant rhodopsin: quality control, degradation and aggresome formation
    • Saliba R.S., Munro P.M., Luthert P.J., Cheetham M.E. The cellular fate of mutant rhodopsin: quality control, degradation and aggresome formation. J. Cell. Sci. 2002, 115:2907-2918.
    • (2002) J. Cell. Sci. , vol.115 , pp. 2907-2918
    • Saliba, R.S.1    Munro, P.M.2    Luthert, P.J.3    Cheetham, M.E.4
  • 97
    • 14944364782 scopus 로고    scopus 로고
    • The US twin study of age-related macular degeneration: relative roles of genetic and environmental influences
    • Seddon J.M., Cote J., Page W.F., Aggen S.H., Neale M.C. The US twin study of age-related macular degeneration: relative roles of genetic and environmental influences. Arch. Ophthalmol. 2005, 123:321-327.
    • (2005) Arch. Ophthalmol. , vol.123 , pp. 321-327
    • Seddon, J.M.1    Cote, J.2    Page, W.F.3    Aggen, S.H.4    Neale, M.C.5
  • 98
    • 0344305692 scopus 로고    scopus 로고
    • Progression of age-related macular degeneration: association with dietary fat, transunsaturated fat, nuts, and fish intake
    • Seddon J.M., Cote J., Rosner B. Progression of age-related macular degeneration: association with dietary fat, transunsaturated fat, nuts, and fish intake. Arch. Ophthalmol. 2003, 121:1728-1737.
    • (2003) Arch. Ophthalmol. , vol.121 , pp. 1728-1737
    • Seddon, J.M.1    Cote, J.2    Rosner, B.3
  • 99
    • 0038010714 scopus 로고    scopus 로고
    • Progression of age-related macular degeneration: association with body mass index, waist circumference, and waist-hip ratio
    • Seddon J.M., Cote J., Davis N., Rosner B. Progression of age-related macular degeneration: association with body mass index, waist circumference, and waist-hip ratio. Arch. Ophthalmol. 2003, 121:785-792.
    • (2003) Arch. Ophthalmol. , vol.121 , pp. 785-792
    • Seddon, J.M.1    Cote, J.2    Davis, N.3    Rosner, B.4
  • 101
    • 0029758899 scopus 로고    scopus 로고
    • A prospective study of cigarette smoking and age-related macular degeneration in women
    • Seddon J.M., Willett W.C., Speizer F.E., Hankinson S.E. A prospective study of cigarette smoking and age-related macular degeneration in women. JAMA 1996, 276:1141-1146.
    • (1996) JAMA , vol.276 , pp. 1141-1146
    • Seddon, J.M.1    Willett, W.C.2    Speizer, F.E.3    Hankinson, S.E.4
  • 103
    • 34347130460 scopus 로고
    • Uber familiare, progressive degeneration in der Maculagegend des Auges
    • Stargardt K. Uber familiare, progressive degeneration in der Maculagegend des Auges. Albrecht von Graefes Arch. Klin. Ophthalmol. 1909, 71:534-550.
    • (1909) Albrecht von Graefes Arch. Klin. Ophthalmol. , vol.71 , pp. 534-550
    • Stargardt, K.1
  • 104
    • 0031749288 scopus 로고    scopus 로고
    • Age-related macular degeneration. Can we stem this worldwide public health crisis?
    • 161-164
    • Starr C.E., Guyer D.R., Yannuzzi L.A. Age-related macular degeneration. Can we stem this worldwide public health crisis?. Postgrad. Med 1998, 103:153-156. 161-164.
    • (1998) Postgrad. Med , vol.103 , pp. 153-156
    • Starr, C.E.1    Guyer, D.R.2    Yannuzzi, L.A.3
  • 105
    • 0028309553 scopus 로고
    • Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q
    • Stone E.M., Nichols B.E., Kimura A.E., Weingeist T.A., Drack A., Sheffield V.C. Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Arch. Ophthalmol. 1994, 112:765-772.
    • (1994) Arch. Ophthalmol. , vol.112 , pp. 765-772
    • Stone, E.M.1    Nichols, B.E.2    Kimura, A.E.3    Weingeist, T.A.4    Drack, A.5    Sheffield, V.C.6
  • 106
    • 70350238360 scopus 로고    scopus 로고
    • Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration
    • Swaroop A., Chew E.Y., Rickman C.B., Abecasis G.R. Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration. Annu. Rev. Genomics Hum. Genet. 2009, 10:19-43.
    • (2009) Annu. Rev. Genomics Hum. Genet. , vol.10 , pp. 19-43
    • Swaroop, A.1    Chew, E.Y.2    Rickman, C.B.3    Abecasis, G.R.4
  • 107
    • 45449109994 scopus 로고    scopus 로고
    • Omega-O-acylceramide, a lipid essential for mammalian survival
    • Uchida Y., Holleran W.M. Omega-O-acylceramide, a lipid essential for mammalian survival. J. Dermatol. Sci. 2008, 51:77-87.
    • (2008) J. Dermatol. Sci. , vol.51 , pp. 77-87
    • Uchida, Y.1    Holleran, W.M.2
  • 108
    • 26444583909 scopus 로고    scopus 로고
    • Molecular composition of drusen and possible involvement of anti-retinal autoimmunity in two different forms of macular degeneration in cynomolgus monkey (Macaca fascicularis)
    • Umeda S., Suzuki M.T., Okamoto H., Ono F., Mizota A., Terao K., Yoshikawa Y., Tanaka Y., Iwata T. Molecular composition of drusen and possible involvement of anti-retinal autoimmunity in two different forms of macular degeneration in cynomolgus monkey (Macaca fascicularis). FASEB J. 2005, 19:1683-1685.
    • (2005) FASEB J. , vol.19 , pp. 1683-1685
    • Umeda, S.1    Suzuki, M.T.2    Okamoto, H.3    Ono, F.4    Mizota, A.5    Terao, K.6    Yoshikawa, Y.7    Tanaka, Y.8    Iwata, T.9
  • 112
    • 26244467335 scopus 로고    scopus 로고
    • Stargardt-like macular dystrophy protein ELOVL4 exerts a dominant negative effect by recruiting wild-type protein into aggresomes
    • Vasireddy V., Vijayasarathy C., Huang J., Wang X.F., Jablonski M.M., Petty H.R., Sieving P.A., Ayyagari R. Stargardt-like macular dystrophy protein ELOVL4 exerts a dominant negative effect by recruiting wild-type protein into aggresomes. Mol. Vis. 2005, 11:665-676.
    • (2005) Mol. Vis. , vol.11 , pp. 665-676
    • Vasireddy, V.1    Vijayasarathy, C.2    Huang, J.3    Wang, X.F.4    Jablonski, M.M.5    Petty, H.R.6    Sieving, P.A.7    Ayyagari, R.8
  • 113
    • 0024315871 scopus 로고
    • Fatty acid synthase, a proficient multifunctional enzyme
    • Wakil S.J. Fatty acid synthase, a proficient multifunctional enzyme. Biochemistry 1989, 28:4523-4530.
    • (1989) Biochemistry , vol.28 , pp. 4523-4530
    • Wakil, S.J.1
  • 114
    • 0033538438 scopus 로고    scopus 로고
    • Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice
    • Weng J., Mata N.L., Azarian S.M., Tzekov R.T., Birch D.G., Travis G.H. Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell 1999, 98:13-23.
    • (1999) Cell , vol.98 , pp. 13-23
    • Weng, J.1    Mata, N.L.2    Azarian, S.M.3    Tzekov, R.T.4    Birch, D.G.5    Travis, G.H.6
  • 116
    • 0023224438 scopus 로고
    • Pathophysiology of age-related macular degeneration
    • Young R.W. Pathophysiology of age-related macular degeneration. Surv. Ophthalmol. 1987, 31:291-306.
    • (1987) Surv. Ophthalmol. , vol.31 , pp. 291-306
    • Young, R.W.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.